Mutagenetix > Incidental Mutation

Incidental Mutation 'R1279:Gm17305'

150979

Institutional Source

Beutler Lab

Gene Symbol

Gm17305

Ensembl Gene

ENSMUSG00000091095

Gene Name

predicted gene, 17305

Synonyms

MMRRC Submission

039345-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1279 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

(GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

TCTCCTCCTCCTCCTCCTCCTC to TCTCCTCCTCCTCCTCCTC at 69260175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092971] [ENSMUST00000108661]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000092971

SMART Domains

Protein: ENSMUSP00000090649
Gene: ENSMUSG00000018474

Domain	Start	End	E-Value	Type
coiled coil region	5	49	N/A	INTRINSIC
low complexity region	73	85	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC
low complexity region	148	180	N/A	INTRINSIC
Pfam:CHDNT	199	253	1.4e-34	PFAM
low complexity region	257	283	N/A	INTRINSIC
low complexity region	285	308	N/A	INTRINSIC
low complexity region	345	360	N/A	INTRINSIC
low complexity region	367	376	N/A	INTRINSIC
low complexity region	398	414	N/A	INTRINSIC
PHD	434	477	1.54e-14	SMART
RING	435	476	4.25e-1	SMART
PHD	510	553	1.74e-13	SMART
RING	511	552	3.93e0	SMART
CHROMO	558	637	7.23e-14	SMART
CHROMO	681	730	2.85e-12	SMART
low complexity region	749	755	N/A	INTRINSIC
DEXDc	784	996	1.64e-31	SMART
low complexity region	1107	1125	N/A	INTRINSIC
HELICc	1142	1226	2.61e-25	SMART
low complexity region	1290	1303	N/A	INTRINSIC
DUF1087	1345	1409	2.98e-33	SMART
DUF1086	1415	1571	1.79e-109	SMART
low complexity region	1573	1602	N/A	INTRINSIC
low complexity region	1672	1685	N/A	INTRINSIC
Pfam:CHDCT2	1754	1926	8.6e-104	PFAM
low complexity region	1935	1967	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108661

SMART Domains

Protein: ENSMUSP00000104301
Gene: ENSMUSG00000018474

Domain	Start	End	E-Value	Type
coiled coil region	5	49	N/A	INTRINSIC
low complexity region	73	85	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC
low complexity region	148	180	N/A	INTRINSIC
Pfam:CHDNT	200	253	4.3e-29	PFAM
low complexity region	257	283	N/A	INTRINSIC
low complexity region	285	308	N/A	INTRINSIC
low complexity region	345	360	N/A	INTRINSIC
low complexity region	367	376	N/A	INTRINSIC
low complexity region	398	414	N/A	INTRINSIC
PHD	434	477	1.54e-14	SMART
RING	435	476	4.25e-1	SMART
PHD	510	553	1.74e-13	SMART
RING	511	552	3.93e0	SMART
CHROMO	558	637	7.23e-14	SMART
CHROMO	681	730	2.85e-12	SMART
low complexity region	749	755	N/A	INTRINSIC
DEXDc	784	996	1.64e-31	SMART
low complexity region	1107	1125	N/A	INTRINSIC
HELICc	1142	1226	2.61e-25	SMART
low complexity region	1290	1303	N/A	INTRINSIC
DUF1087	1345	1409	2.98e-33	SMART
DUF1086	1415	1571	1.79e-109	SMART
low complexity region	1573	1602	N/A	INTRINSIC
low complexity region	1672	1685	N/A	INTRINSIC
Pfam:CHDCT2	1789	1960	4.9e-93	PFAM
low complexity region	1969	2001	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128981

SMART Domains

Protein: ENSMUSP00000122137
Gene: ENSMUSG00000018474

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
low complexity region	55	87	N/A	INTRINSIC
Pfam:CHDNT	107	160	3.9e-29	PFAM
low complexity region	164	190	N/A	INTRINSIC
low complexity region	192	215	N/A	INTRINSIC
low complexity region	252	267	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
low complexity region	305	321	N/A	INTRINSIC
PHD	341	384	1.54e-14	SMART
RING	342	383	4.25e-1	SMART
PHD	417	460	1.74e-13	SMART
RING	418	459	3.93e0	SMART
CHROMO	465	544	7.23e-14	SMART
CHROMO	588	637	2.85e-12	SMART
low complexity region	656	662	N/A	INTRINSIC
DEXDc	691	903	1.64e-31	SMART
low complexity region	1014	1032	N/A	INTRINSIC
HELICc	1049	1133	2.61e-25	SMART
low complexity region	1197	1210	N/A	INTRINSIC
DUF1087	1252	1316	2.98e-33	SMART
DUF1086	1322	1478	1.79e-109	SMART
low complexity region	1480	1509	N/A	INTRINSIC
low complexity region	1579	1592	N/A	INTRINSIC
Pfam:CHDCT2	1662	1833	4.4e-93	PFAM
low complexity region	1842	1874	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166700

SMART Domains

Protein: ENSMUSP00000126782
Gene: ENSMUSG00000091095

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
low complexity region	79	101	N/A	INTRINSIC
low complexity region	103	159	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Atp6v0d2	A	T	4: 19,878,298 (GRCm39)	M325K	probably benign	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Mfap5	A	G	6: 122,503,722 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,591,660 (GRCm39)		probably null	Het
Oas1a	A	G	5: 121,035,241 (GRCm39)		probably null	Het
Oat	A	T	7: 132,168,809 (GRCm39)	L137H	probably damaging	Het
Or10h5	T	C	17: 33,435,300 (GRCm39)	Y6C	possibly damaging	Het
Or2n1c	A	G	17: 38,519,678 (GRCm39)	I181V	probably benign	Het
Or5h17	G	A	16: 58,820,501 (GRCm39)	G151D	possibly damaging	Het
Padi3	T	C	4: 140,530,888 (GRCm39)	S45G	probably benign	Het
Pias1	A	G	9: 62,799,427 (GRCm39)	S488P	probably damaging	Het
Plxnb2	G	A	15: 89,046,524 (GRCm39)	T873I	probably benign	Het
Ppp4r2	A	T	6: 100,842,879 (GRCm39)	R176*	probably null	Het
Pramel51	C	T	12: 88,142,650 (GRCm39)	V323M	probably benign	Het
Prkdc	A	T	16: 15,508,146 (GRCm39)	L932F	probably damaging	Het
Ros1	C	A	10: 52,018,262 (GRCm39)	A799S	possibly damaging	Het
Scn4a	A	T	11: 106,226,508 (GRCm39)	I684N	probably damaging	Het
Sypl2	A	G	3: 108,124,990 (GRCm39)	F124L	probably damaging	Het
Tacr1	G	T	6: 82,534,164 (GRCm39)	E397*	probably null	Het
Vmn1r7	T	C	6: 57,001,934 (GRCm39)	T109A	possibly damaging	Het
Zp1	A	G	19: 10,895,941 (GRCm39)	S232P	probably damaging	Het

Other mutations in Gm17305

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01970:Gm17305	APN	11	69,255,646 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCGGACGGACGCTTACCT -3'
(R):5'- CCATCTTAGTGCCTCAGCTCTGAGAA -3'

Sequencing Primer
(F):5'- CTTACCTggtggcgggg -3'
(R):5'- Tgaggaggaggaggaggag -3'

Posted On

2014-01-29